{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,14]],"date-time":"2026-05-14T04:27:02Z","timestamp":1778732822272,"version":"3.51.4"},"reference-count":34,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2017,2,16]],"date-time":"2017-02-16T00:00:00Z","timestamp":1487203200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Euro J of Neurology"],"published-print":{"date-parts":[[2017,3]]},"abstract":"Background and purpose<\/jats:title>Charcot\u2212Marie\u2212Tooth (CMT<\/jats:styled-content>) 1C due to mutations in LITAF<\/jats:styled-content>\/SIMPLE<\/jats:styled-content><\/jats:italic> is a rare subtype amongst the autosomal dominant demyelinating forms of CMT<\/jats:styled-content>. Our objective was to report the clinical and electrophysiological characteristics of 18 CMT<\/jats:styled-content>1C patients and compare them to 20 patients with PMP<\/jats:styled-content>22<\/jats:italic> mutations: 10 CMT<\/jats:styled-content>1A patients and 10 patients with hereditary neuropathy with liability to pressure palsies (HNPP<\/jats:styled-content>).<\/jats:p><\/jats:sec>Methods<\/jats:title>Charcot\u2212Marie\u2212Tooth 1C patients were followed\u2010up in referral centres for neuromuscular diseases or were identified by familial survey. All CMT<\/jats:styled-content>1A and HNPP<\/jats:styled-content> patients were recruited at the referral centre for neuromuscular diseases of Piti\u00e9\u2010Salp\u00eatri\u00e8re Hospital.<\/jats:p><\/jats:sec>Results<\/jats:title>Two phenotypes were identified amongst 18 CMT<\/jats:styled-content>1C patients: the classical CMT<\/jats:styled-content> form (\u2018CMT<\/jats:styled-content>\u2010like\u2019, 11 cases) and a predominantly sensory form (\u2018sensory form\u2019, seven cases). The mean CMT<\/jats:styled-content> neuropathy score was 4.45 in CMT1C patients. Motor nerve conduction velocities in the upper limbs were significantly more reduced in CMT<\/jats:styled-content>1A than in CMT<\/jats:styled-content>1C patients. On the other hand, the motor nerve conduction velocity of the median nerve was significantly lower in CMT<\/jats:styled-content>1C compared to the HNPP<\/jats:styled-content> group. Distal motor latency was significantly more prolonged in CMT<\/jats:styled-content>1A patients compared to the CMT<\/jats:styled-content>1C and HNPP<\/jats:styled-content> groups, the latter two groups having similar distal motor latency values. Molecular analysis revealed five new LITAF<\/jats:styled-content>\/SIMPLE<\/jats:styled-content><\/jats:italic> mutations (Ala111Thr, Gly112Ala, Trp116Arg, Pro135Leu, Arg160Cys).<\/jats:p><\/jats:sec>Conclusions<\/jats:title>Our study delineates CMT<\/jats:styled-content>1C as mostly a mild form of neuropathy, and gives clinical and electrophysiological clues differentiating CMT<\/jats:styled-content>1C from CMT<\/jats:styled-content>1A and HNPP<\/jats:styled-content>. Delineating phenotypes in CMT<\/jats:styled-content> subtypes is important to orient molecular diagnosis and to help to interpret complex molecular findings.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.13239","type":"journal-article","created":{"date-parts":[[2017,2,17]],"date-time":"2017-02-17T05:00:46Z","timestamp":1487307646000},"page":"530-538","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":8,"title":["Phenotypic spectrum of Charcot\u2212Marie\u2212Tooth disease due to LITAF<\/scp>\/SIMPLE<\/scp><\/i> mutations: a study of 18 patients"],"prefix":"10.1111","volume":"24","author":[{"given":"R.","family":"Guimar\u00e3es\u2010Costa","sequence":"first","affiliation":[{"name":"Centre de R\u00e9f\u00e9rence des Maladies Neuromusculaires Paris Est Institut de Myologie H\u00f4pital Piti\u00e9\u2010Salp\u00eatri\u00e8re Paris France"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Iancu 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